A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10536664



Internal ID538480
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:70066316..70074337hg38UCSC Ensembl
Innerchr2:70066316..70074337hg38UCSC Ensembl
Outerchr2:70065992..70074669hg38UCSC Ensembl
chr2:70293448..70301469hg19UCSC Ensembl
Innerchr2:70293448..70301469hg19UCSC Ensembl
Outerchr2:70293124..70301801hg19UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg388022
hg198022
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3591198
Supporting Variants
SamplesHG01392
Known GenesPCBP1-AS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10536664
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer